Canonical Allele Identifier: CA13394421
Gene: PGR HGNC NCBI
COSMIC:
COSN6606506 (not active)
gnomAD v2:
11:100901473 A / G
gnomAD v3:
11:101030742 A / G
gnomAD v4:
chr11-101030742-A-G
Joint Max Group AF 0.30416914 (NFE)
Genomes Max Group AF 0.30868184 (NFE)
Exomes Max Group AF 0.29132319 (NFE)
dbSNP:
1870019
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.101030742A>G , CM000673.2:g.101030742A>G GRCh38
NC_000011.9:g.100901473A>G , CM000673.1:g.100901473A>G GRCh37
NC_000011.8:g.100406683A>G NCBI36
NG_016475.1:g.104072T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000325455.10:c.*8374T>C MANE Select ENSP00000325120.5:n.*8374T>C
ENST00000325455.9:c.*8374T>C ENSP00000325120.5:n.*8374T>C
NM_000926.4:c.*8374T>C MANE Select NP_000917.3:n.*8374T>C
NM_001202474.3:c.*8374T>C NP_001189403.1:n.*8374T>C
NM_001271161.2:c.*8374T>C NP_001258090.1:n.*8374T>C
NM_001271162.1:c.*8374T>C NP_001258091.1:n.*8374T>C
NR_073141.2:n.11117T>C
NR_073142.2:n.11000T>C
NR_073143.2:n.10732T>C
NM_001271162.2:c.*8374T>C NP_001258091.1:n.*8374T>C
NR_073141.3:n.11131T>C
NR_073142.3:n.11014T>C
NR_073143.3:n.10746T>C
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